AutismKB 2.0

Annotation Detail for C17orf53


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Basic Information Top
Gene Symbol:C17orf53 ( FLJ11594,MGC3130 )
Gene Full Name: chromosome 17 open reading frame 53
Band: 17q21.31
Quick LinksEntrez ID:78995; OMIM: NA; Uniprot ID:CQ053_HUMAN; ENSEMBL ID: ENSG00000125319; HGNC ID: 28460
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
22Phosphoserine(CK2)HMM predict
86Phosphothreonine(MAPK)HMM predict
86Phosphothreonine(CDK)HMM predict
105Phosphoserine(IKK)HMM predict
106O-linkedHMM predict
107Phosphoserine(CK1)HMM predict
118Phosphothreonine(PKC)HMM predict
287Phosphothreonine(PKC)HMM predict
319Phosphothreonine(CDC2)HMM predict
319Phosphothreonine(CDK)HMM predict
319Phosphothreonine(MAPK)HMM predict
321N-linkedHMM predict
322Phosphoserine(IKK)HMM predict
323O-linkedHMM predict
326Phosphothreonine(MAPK)HMM predict
326Phosphothreonine(CDK)HMM predict
326O-linkedHMM predict
326Phosphothreonine(CDC2)HMM predict
328O-linkedHMM predict
347O-linkedHMM predict
347O-linkedHMM predict
348O-linkedHMM predict
351Phosphoserine(CDC2)HMM predict
351O-linkedHMM predict
355Phosphothreonine(CDC2)HMM predict
365Phosphothreonine(MAPK)HMM predict
382Phosphothreonine(CDK)HMM predict
382Phosphothreonine(MAPK)HMM predict
395Phosphothreonine(PKC)HMM predict
424Phosphothreonine(CDK)HMM predict
424Phosphothreonine(MAPK)HMM predict
426Phosphothreonine(MAPK)HMM predict
444Phosphoserine(IKK)HMM predict
444Phosphoserine(CK2)HMM predict
456Phosphothreonine(PKC)HMM predict
509Phosphothreonine(PKA)HMM predict
563N-linkedHMM predict
567N-linkedHMM predict
568N-linkedHMM predict
574Phosphoserine(MAPK)HMM predict
619Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024032
  • Location:chr17 39574851-39595369
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39574568 39574836 268 150
CTCF CD4SISSRdata 39574568 39574836 268 150
CTCF HelaGSE12889 39574566 39574948 382 95
Nanog hESGSE18292 39572289 39572504 215 2455
Rb GrowingGSE19898 39571002 39571289 287 3706
Rb QuiescentGSE19898 39570934 39571470 536 3650
Rb QuiescentGSE19898 39574573 39574986 413 72
Rb SenescentGSE19898 39570887 39571495 608 3661
Rb SenescentGSE19898 39574585 39575007 422 56
Rb shRbQuiescentGSE19898 39570978 39571156 178 3785
Rb shRbQuiescentGSE19898 39571186 39571308 122 3605
Rb shRbSenescenceGSE19898 39571149 39571479 330 3538
TAF k562GSE8489 39571682 39571941 259 3040
TFAP2C MCF7GSE21234 39570697 39571571 874 3718
p130 QuiescentGSE19898 39570854 39571396 542 3727
p130 SenescentGSE19898 39570842 39571593 751 3634
p130 shRbQuiescentGSE19898 39570873 39571427 554 3702
p130 shRbSenescentGSE19898 39571104 39571471 367 3564
p63 keratinocytesGSE17611 39570599 39571848 1249 3628
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 39574623 39575117 494 0
E2F4 G0GSE7516 39574623 39575117 494 0
Fos K562GSE19551 39592323 39592738 415 0
H3ac HepG2E 39575471 39575801 330 0
LIN54 G0GSE7516 39574623 39575117 494 0
LIN9 G0GSE7516 39574623 39575117 494 0
LIN9 SGSE7516 39574623 39575117 494 0
PHF8 293TGSE20725 39574641 39575546 905 0
Rb SenescentGSE19898 39575296 39575709 413 0
STAT1 HeLaGSE12783 39577521 39578976 1455 0
hScc1 CdLSGSE12603 39574623 39575117 494 0
p130 QuiescentGSE19898 39574643 39575168 525 0
p130 SenescentGSE19898 39574558 39575348 790 0
p130 SenescentGSE19898 39575455 39575731 276 0
p130 shRbQuiescentGSE19898 39574621 39575350 729 0
p130 shRbSenescentGSE19898 39574524 39575518 994 0
p130 G0GSE7516 39574623 39575117 494 0
p130 SGSE7516 39574623 39575117 494 0
p63 keratinocytesGSE17611 39585356 39586968 1612 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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